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. 2010 Feb 28;181(2):108-13.
doi: 10.1016/j.pscychresns.2009.10.009. Epub 2010 Jan 13.

Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome

Elliott A Beaton  1 , Yufeng Qin, Vy Nguyen, Joel Johnson, Joseph D Pinter, Tony J Simon
Affiliations

Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome

Elliott A Beaton et al. Psychiatry Res. .

Abstract

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length and, for the first time, volume, of the cavum septum pellucidum (CSP) in children aged 7 to 14years with 22q11.2DS and typically developing (TD) controls. Significantly greater anteroposterior length and greater CSP volumes were found in children with 22q11.2DS compared with controls. Furthermore, the largest CSP were found only in the 22q11.2DS group and with a much higher incidence than previously reported in the literature. Given the significant midline anomalies in the brains of those affected by 22q11.2DS, large CSP may be a biomarker of atypical brain development. The implication of these larger CSP for cognitive and behavioral development is a topic in need of further investigation.

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Figures

Figure 1
Figure 1
A composite of coronal and axial T1-weighted anatomical magnetic resonance (MR) images illustrating an example from each of the five CSP classifications used in this study: A = None, B = Normal, C = Borderline, D = Abnormal, and E = Extreme. Note the complete nonfusion of the septal leaflets in E showing the presence and severe enlargement of cavum septum pellucidum/cavum verga in a patient with chromosome 22q11.2 deletion syndrome.
Figures 2a and 2b
Figures 2a and 2b
Boxplots of log-transformed CSP lengths (2a) and volumes (2b) for children with and without chromosome 22q11.2 deletion syndrome (22q11.2DS). Data points are labeled according to the CSP classification scheme. Note the number of CSP volumes that fell beyond the fourth quartile of the boxplot in the group of children with 22q11.2DS.
See this image and copyright information in PMC

References

    1. Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: Genetics, neuroanatomy and cognitive/behavioral features. Neuropsychology, Development, and Cognition. Section C, Child Neuropsychology. 2005;11:5–19. - PubMed
    1. Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, Emannuel B, Cannon TD. The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. Journal of Clinical and Experimental Neuropsychology. 2001;23:447–464. - PubMed
    1. Bish JP, Ferrante S, McDonald-McGinn D, Zackai E, Simon TJ. Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Developmental Science. 2005;8:36–43. - PubMed
    1. Bish JP, Nguyen V, Ding L, Ferrante S, Simon TJ. Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Neuroreport. 2004;15:1413–1415. - PubMed
    1. Bodensteiner JB, Schaefer GB. Wide cavum septum pellucidum: a marker of disturbed brain development. Pediatric Neurology. 1990;6:391–394. - PubMed

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